Dwarfism with tall vertebrae

Preferred Label : Dwarfism with tall vertebrae;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal dominant;

Prefixed ID : 126950;

Details

Origin ID

126950;

UMLS CUI

C1851996;

Automatic exact mappings (from CISMeF team)
- Dwarfism - tall vertebrae [ICD-11 More detail]
Currated CISMeF NLP mapping
- Dwarfism tall vertebrae [MeSH concept]
- Dwarfism-tall vertebrae syndrome [ORDO Disease]
- dwarfism tall vertebrae [MeSH Supplementary Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Coxa vara [HPO term]
- Disproportionately tall vertebral bodies [HPO term]
- Dwarfism [HPO term]
- Increased vertebral height [HPO term]
- Severe short stature [HPO term]
ORDO concept(s)
- Dwarfism-tall vertebrae syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dwarfism tall vertebrae [MeSH concept]
- Dwarfism-tall vertebrae syndrome [ORDO Disease]
- dwarfism tall vertebrae [MeSH Supplementary Concept]

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